Incidental Mutation 'R6608:Stard7'
ID 526414
Institutional Source Beutler Lab
Gene Symbol Stard7
Ensembl Gene ENSMUSG00000027367
Gene Name StAR related lipid transfer domain containing 7
Synonyms
MMRRC Submission 044731-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R6608 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 127112138-127140852 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127132715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 194 (K194N)
Ref Sequence ENSEMBL: ENSMUSP00000106004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110375]
AlphaFold Q8R1R3
Predicted Effect probably damaging
Transcript: ENSMUST00000110375
AA Change: K194N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106004
Gene: ENSMUSG00000027367
AA Change: K194N

DomainStartEndE-ValueType
low complexity region 8 27 N/A INTRINSIC
low complexity region 60 73 N/A INTRINSIC
coiled coil region 89 117 N/A INTRINSIC
START 124 332 4.52e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123152
Predicted Effect probably damaging
Transcript: ENSMUST00000125049
AA Change: K229N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116374
Gene: ENSMUSG00000027367
AA Change: K229N

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
coiled coil region 48 76 N/A INTRINSIC
Blast:START 86 129 1e-12 BLAST
Pfam:START 204 367 3.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154549
Meta Mutation Damage Score 0.1119 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 98% (43/44)
MGI Phenotype PHENOTYPE: Heterozygous KO results in exaggerated allergic response (lung inflammation, increased epithelial barrier permeability and airway responsiveness) and atopic dermatitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,770,555 (GRCm39) T571A probably benign Het
Adamts18 A T 8: 114,501,911 (GRCm39) Y317N probably damaging Het
Adgrg5 T C 8: 95,668,348 (GRCm39) F470S probably damaging Het
AK157302 T C 13: 21,679,794 (GRCm39) S107P probably damaging Het
Ankrd31 A G 13: 96,969,288 (GRCm39) Y975C probably damaging Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Aox1 T C 1: 58,096,705 (GRCm39) Y267H probably benign Het
Cdan1 A C 2: 120,557,161 (GRCm39) I555R possibly damaging Het
Clns1a A G 7: 97,365,675 (GRCm39) T226A probably benign Het
Col18a1 C T 10: 76,948,628 (GRCm39) probably benign Het
Col5a3 C A 9: 20,685,315 (GRCm39) V1454L unknown Het
Coq6 G A 12: 84,418,922 (GRCm39) V309I probably benign Het
Decr2 C T 17: 26,302,858 (GRCm39) V173M probably benign Het
Dmgdh G A 13: 93,843,252 (GRCm39) G363S possibly damaging Het
Dnah7a A T 1: 53,564,277 (GRCm39) D1927E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Epm2a T C 10: 11,266,731 (GRCm39) probably null Het
Gm1979 T A 5: 26,206,094 (GRCm39) H162L probably benign Het
Irag1 A T 7: 110,487,758 (GRCm39) S486T probably damaging Het
Knl1 A G 2: 118,917,093 (GRCm39) N1759D probably damaging Het
Man1b1 T A 2: 25,233,263 (GRCm39) V212E probably damaging Het
Marf1 A G 16: 13,950,578 (GRCm39) L936S probably damaging Het
Mki67 G A 7: 135,300,090 (GRCm39) T1648I probably benign Het
Or2n1c T C 17: 38,519,370 (GRCm39) V78A probably damaging Het
Or3a1b T C 11: 74,012,454 (GRCm39) V113A probably benign Het
Or5d40 A G 2: 88,016,049 (GRCm39) Y276C possibly damaging Het
Or6n2 A G 1: 173,897,295 (GRCm39) M144V probably benign Het
Parp11 A G 6: 127,454,811 (GRCm39) I110V possibly damaging Het
Pcdhb5 A G 18: 37,454,876 (GRCm39) T419A probably damaging Het
Pitpnm1 A G 19: 4,160,875 (GRCm39) D838G probably damaging Het
Rbm26 T A 14: 105,389,934 (GRCm39) N230I probably damaging Het
Rnf20 C T 4: 49,650,051 (GRCm39) S540F probably benign Het
Rsad1 T C 11: 94,433,435 (GRCm39) D417G probably damaging Het
Serpina3c A T 12: 104,115,883 (GRCm39) N220K probably benign Het
Slc6a19 A G 13: 73,832,091 (GRCm39) L495P probably damaging Het
Tinagl1 A G 4: 130,066,782 (GRCm39) M105T probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Usp10 C T 8: 120,675,161 (GRCm39) R461W probably benign Het
Wsb1 C T 11: 79,131,188 (GRCm39) E403K probably benign Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zp1 C T 19: 10,896,344 (GRCm39) C127Y possibly damaging Het
Zzef1 T A 11: 72,803,652 (GRCm39) F2466L probably damaging Het
Other mutations in Stard7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Stard7 APN 2 127,112,746 (GRCm39) missense probably damaging 1.00
IGL02172:Stard7 APN 2 127,132,792 (GRCm39) missense probably damaging 1.00
IGL03328:Stard7 APN 2 127,134,176 (GRCm39) splice site probably benign
R0078:Stard7 UTSW 2 127,134,127 (GRCm39) missense probably damaging 0.96
R0579:Stard7 UTSW 2 127,126,473 (GRCm39) missense probably damaging 1.00
R1607:Stard7 UTSW 2 127,137,406 (GRCm39) missense possibly damaging 0.69
R1836:Stard7 UTSW 2 127,137,480 (GRCm39) missense probably benign 0.30
R4478:Stard7 UTSW 2 127,126,179 (GRCm39) missense probably damaging 1.00
R4526:Stard7 UTSW 2 127,139,128 (GRCm39) missense probably benign
R5075:Stard7 UTSW 2 127,111,879 (GRCm39) unclassified probably benign
R5279:Stard7 UTSW 2 127,137,416 (GRCm39) missense probably damaging 1.00
R6394:Stard7 UTSW 2 127,126,161 (GRCm39) missense probably damaging 1.00
R7108:Stard7 UTSW 2 127,137,414 (GRCm39) missense possibly damaging 0.69
R9284:Stard7 UTSW 2 127,132,956 (GRCm39) missense probably damaging 0.96
Z1176:Stard7 UTSW 2 127,139,186 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- AGAATCTTACAGTATGTGCGAACC -3'
(R):5'- TGATCCACACTATACCGCCG -3'

Sequencing Primer
(F):5'- TGTGCGAACCATCTAATAAACAGTC -3'
(R):5'- GCCGAACATAAACATAATCACGAGAG -3'
Posted On 2018-06-25